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    MGAT4D MGAT4 family member D [ Homo sapiens (human) ]

    Gene ID: 152586, updated on 3-Apr-2024

    Summary

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    Official Symbol
    MGAT4Dprovided by HGNC
    Official Full Name
    MGAT4 family member Dprovided by HGNC
    Primary source
    HGNC:HGNC:43619
    See related
    Ensembl:ENSG00000205301 MIM:610310; AllianceGenome:HGNC:43619
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    GnT1IP
    Summary
    Predicted to enable acetylglucosaminyltransferase activity. Predicted to be involved in protein N-linked glycosylation. Predicted to be located in membrane. Predicted to be active in Golgi stack; endoplasmic reticulum; and endoplasmic reticulum-Golgi intermediate compartment. [provided by Alliance of Genome Resources, Apr 2022]
    Expression
    Restricted expression toward testis (RPKM 7.0) See more
    Orthologs
    mouse all
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    Genomic context

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    See MGAT4D in Genome Data Viewer
    Location:
    4q31.1
    Exon count:
    14
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 4 NC_000004.12 (140442262..140498293, complement)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 4 NC_060928.1 (143762026..143818003, complement)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 4 NC_000004.11 (141363416..141419447, complement)

    Chromosome 4 - NC_000004.12Genomic Context describing neighboring genes Neighboring gene short coiled-coil protein Neighboring gene SCOC antisense RNA 1 Neighboring gene OCT4 hESC enhancer GRCh37_chr4:141294483-141294984 Neighboring gene ribosomal protein L14 pseudogene 3 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr4:141334799-141335364 Neighboring gene calmegin Neighboring gene ATAC-STARR-seq lymphoblastoid active region 21935 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr4:141418967-141419468 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr4:141419469-141419968 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 15710 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 15711 Neighboring gene ELMO domain containing 2 Neighboring gene uncoupling protein 1

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

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    Related articles in PubMed

    1. GnT1IP-L specifically inhibits MGAT1 in the Golgi via its luminal domain. Huang HH, et al. Elife, 2015 Sep 15. PMID 26371870, Free PMC Article
    2. ELMOD2 is a candidate gene for familial idiopathic pulmonary fibrosis. Hodgson U, et al. Am J Hum Genet, 2006 Jul. PMID 16773575, Free PMC Article
    3. A testis-specific regulator of complex and hybrid N-glycan synthesis. Huang HH, et al. J Cell Biol, 2010 Sep 6. PMID 20805325, Free PMC Article
    4. Point mutations that inactivate MGAT4D-L, an inhibitor of MGAT1 and complex N-glycan synthesis. Akintayo A, et al. J Biol Chem, 2020 Oct 9. PMID 32763972, Free PMC Article
    5. Genome-wide association with select biomarker traits in the Framingham Heart Study. Benjamin EJ, et al. BMC Med Genet, 2007 Sep 19. PMID 17903293, Free PMC Article

    See all (9) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Point mutations that inactivate MGAT4D-L, an inhibitor of MGAT1 and complex N-glycan synthesis.
      Title: Point mutations that inactivate MGAT4D-L, an inhibitor of MGAT1 and complex N-glycan synthesis.
    2. The authors show here that the luminal domain of GnT1IP-L contains its MGAT1 inhibitory activity.
      Title: GnT1IP-L specifically inhibits MGAT1 in the Golgi via its luminal domain.
    Submit: New GeneRIF Correction

    Phenotypes

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    Review eQTL and phenotype association data in this region using PheGenI

    EBI GWAS Catalog

    Description
    Genome-wide association with select biomarker traits in the Framingham Heart Study.
    EBI GWAS Catalog

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Genotypes

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Homology

    Clone Names

    • MGC43429

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables acetylglucosaminyltransferase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    Process Evidence Code Pubs
    involved_in cell differentiation IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in negative regulation of protein glycosylation IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in protein N-linked glycosylation IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in spermatogenesis IEA
    Inferred from Electronic Annotation
    more info
    		  
    Component Evidence Code Pubs
    located_in Golgi membrane IEA
    Inferred from Electronic Annotation
    more info
    		  
    is_active_in Golgi stack IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    is_active_in endoplasmic reticulum IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in endoplasmic reticulum membrane IEA
    Inferred from Electronic Annotation
    more info
    		  
    is_active_in endoplasmic reticulum-Golgi intermediate compartment IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  

    General protein information

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    Preferred Names
    alpha-1,3-mannosyl-glycoprotein 4-beta-N-acetylglucosaminyltransferase-like protein MGAT4D
    Names
    GlcNAcT-I Inhibitory Protein
    N-acetylglucosaminyltransferase MGAT1 inhibitory protein
    glycosyltransferase 54 domain containing 1
    glycosyltransferase 54 domain-containing protein
    mannosyl (alpha-1,3-)-glycoprotein beta-1,4-N-acetylglucosaminyltransferase family, member D
    NP_001264282.1
    XP_011529952.1
    XP_011529953.1
    XP_011529954.1
    XP_011529955.1
    XP_011529956.1
    XP_011529958.1
    XP_011529959.1
    XP_011529960.1
    XP_011529961.1
    XP_011529963.1
    XP_011529964.1
    XP_011529966.1
    XP_011529967.1
    XP_047305604.1
    XP_054204975.1
    XP_054204976.1
    XP_054204977.1
    XP_054204978.1
    XP_054204979.1
    XP_054204980.1
    XP_054204981.1
    XP_054204982.1
    XP_054204983.1
    XP_054204984.1
    XP_054204985.1
    XP_054204986.1
    XP_054204987.1
    XP_054204988.1

    NCBI Reference Sequences (RefSeq)

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    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    mRNA and Protein(s)

    1. NM_001277353.2 → NP_001264282.1  alpha-1,3-mannosyl-glycoprotein 4-beta-N-acetylglucosaminyltransferase-like protein MGAT4D precursor

      See identical proteins and their annotated locations for NP_001264282.1

      Status: VALIDATED

      Source sequence(s)
      AC093671, BI826002, BI828214, DB444046, DB462368
      Consensus CDS
      CCDS64066.1
      UniProtKB/Swiss-Prot
      A6NG13
      UniProtKB/TrEMBL
      D6RH02
      Related
      ENSP00000421185.1, ENST00000511113.6
      Conserved Domains (1) summary
      pfam04666
      Location:96 → 372
      Glyco_transf_54; N-Acetylglucosaminyltransferase-IV (GnT-IV) conserved region

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000004.12 Reference GRCh38.p14 Primary Assembly

      Range
      140442262..140498293 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011531665.4 → XP_011529967.1  alpha-1,3-mannosyl-glycoprotein 4-beta-N-acetylglucosaminyltransferase-like protein MGAT4D isoform X10

      See identical proteins and their annotated locations for XP_011529967.1

      Conserved Domains (1) summary
      pfam04666
      Location:1 → 186
      Glyco_transf_54; N-Acetylglucosaminyltransferase-IV (GnT-IV) conserved region

    2. XM_011531658.4 → XP_011529960.1  alpha-1,3-mannosyl-glycoprotein 4-beta-N-acetylglucosaminyltransferase-like protein MGAT4D isoform X6

      Conserved Domains (1) summary
      pfam04666
      Location:30 → 273
      Glyco_transf_54; N-Acetylglucosaminyltransferase-IV (GnT-IV) conserved region

    3. XM_011531656.4 → XP_011529958.1  alpha-1,3-mannosyl-glycoprotein 4-beta-N-acetylglucosaminyltransferase-like protein MGAT4D isoform X4

      UniProtKB/TrEMBL
      D6RH02
      Conserved Domains (1) summary
      pfam04666
      Location:85 → 326
      Glyco_transf_54; N-Acetylglucosaminyltransferase-IV (GnT-IV) conserved region

    4. XM_011531654.4 → XP_011529956.1  alpha-1,3-mannosyl-glycoprotein 4-beta-N-acetylglucosaminyltransferase-like protein MGAT4D isoform X3

      UniProtKB/TrEMBL
      D6RH02
      Conserved Domains (1) summary
      pfam04666
      Location:96 → 353
      Glyco_transf_54; N-Acetylglucosaminyltransferase-IV (GnT-IV) conserved region

    5. XM_011531650.4 → XP_011529952.1  alpha-1,3-mannosyl-glycoprotein 4-beta-N-acetylglucosaminyltransferase-like protein MGAT4D isoform X1

      UniProtKB/TrEMBL
      D6RH02
      Conserved Domains (1) summary
      pfam04666
      Location:96 → 362
      Glyco_transf_54; N-Acetylglucosaminyltransferase-IV (GnT-IV) conserved region

    6. XM_011531653.4 → XP_011529955.1  alpha-1,3-mannosyl-glycoprotein 4-beta-N-acetylglucosaminyltransferase-like protein MGAT4D isoform X2

      See identical proteins and their annotated locations for XP_011529955.1

      UniProtKB/TrEMBL
      D6RH02
      Conserved Domains (1) summary
      pfam04666
      Location:80 → 356
      Glyco_transf_54; N-Acetylglucosaminyltransferase-IV (GnT-IV) conserved region

    7. XM_011531652.3 → XP_011529954.1  alpha-1,3-mannosyl-glycoprotein 4-beta-N-acetylglucosaminyltransferase-like protein MGAT4D isoform X2

      See identical proteins and their annotated locations for XP_011529954.1

      UniProtKB/TrEMBL
      D6RH02
      Conserved Domains (1) summary
      pfam04666
      Location:80 → 356
      Glyco_transf_54; N-Acetylglucosaminyltransferase-IV (GnT-IV) conserved region

    8. XM_011531651.3 → XP_011529953.1  alpha-1,3-mannosyl-glycoprotein 4-beta-N-acetylglucosaminyltransferase-like protein MGAT4D isoform X2

      See identical proteins and their annotated locations for XP_011529953.1

      UniProtKB/TrEMBL
      D6RH02
      Conserved Domains (1) summary
      pfam04666
      Location:80 → 356
      Glyco_transf_54; N-Acetylglucosaminyltransferase-IV (GnT-IV) conserved region

    9. XM_011531664.3 → XP_011529966.1  alpha-1,3-mannosyl-glycoprotein 4-beta-N-acetylglucosaminyltransferase-like protein MGAT4D isoform X10

      See identical proteins and their annotated locations for XP_011529966.1

      Conserved Domains (1) summary
      pfam04666
      Location:1 → 186
      Glyco_transf_54; N-Acetylglucosaminyltransferase-IV (GnT-IV) conserved region

    10. XM_011531657.4 → XP_011529959.1  alpha-1,3-mannosyl-glycoprotein 4-beta-N-acetylglucosaminyltransferase-like protein MGAT4D isoform X5

      UniProtKB/TrEMBL
      D6RH02
      Conserved Domains (1) summary
      pfam04666
      Location:48 → 324
      Glyco_transf_54; N-Acetylglucosaminyltransferase-IV (GnT-IV) conserved region

    11. XM_047449648.1 → XP_047305604.1  alpha-1,3-mannosyl-glycoprotein 4-beta-N-acetylglucosaminyltransferase-like protein MGAT4D isoform X10

    12. XM_011531659.3 → XP_011529961.1  alpha-1,3-mannosyl-glycoprotein 4-beta-N-acetylglucosaminyltransferase-like protein MGAT4D isoform X7

      Conserved Domains (1) summary
      pfam04666
      Location:96 → 254
      Glyco_transf_54; N-Acetylglucosaminyltransferase-IV (GnT-IV) conserved region

    13. XM_011531661.3 → XP_011529963.1  alpha-1,3-mannosyl-glycoprotein 4-beta-N-acetylglucosaminyltransferase-like protein MGAT4D isoform X8

      Conserved Domains (1) summary
      pfam04666
      Location:96 → 218
      Glyco_transf_54; N-Acetylglucosaminyltransferase-IV (GnT-IV) conserved region

    14. XM_011531662.3 → XP_011529964.1  alpha-1,3-mannosyl-glycoprotein 4-beta-N-acetylglucosaminyltransferase-like protein MGAT4D isoform X9

      Conserved Domains (1) summary
      pfam04666
      Location:96 → 191
      Glyco_transf_54; N-Acetylglucosaminyltransferase-IV (GnT-IV) conserved region

    RNA

    1. XR_938697.3 RNA Sequence

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060928.1 Alternate T2T-CHM13v2.0

      Range
      143762026..143818003 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054349012.1 → XP_054204987.1  alpha-1,3-mannosyl-glycoprotein 4-beta-N-acetylglucosaminyltransferase-like protein MGAT4D isoform X10

    2. XM_054349007.1 → XP_054204982.1  alpha-1,3-mannosyl-glycoprotein 4-beta-N-acetylglucosaminyltransferase-like protein MGAT4D isoform X6

    3. XM_054349005.1 → XP_054204980.1  alpha-1,3-mannosyl-glycoprotein 4-beta-N-acetylglucosaminyltransferase-like protein MGAT4D isoform X4

    4. XM_054349004.1 → XP_054204979.1  alpha-1,3-mannosyl-glycoprotein 4-beta-N-acetylglucosaminyltransferase-like protein MGAT4D isoform X3

    5. XM_054349000.1 → XP_054204975.1  alpha-1,3-mannosyl-glycoprotein 4-beta-N-acetylglucosaminyltransferase-like protein MGAT4D isoform X1

    6. XM_054349003.1 → XP_054204978.1  alpha-1,3-mannosyl-glycoprotein 4-beta-N-acetylglucosaminyltransferase-like protein MGAT4D isoform X2

    7. XM_054349002.1 → XP_054204977.1  alpha-1,3-mannosyl-glycoprotein 4-beta-N-acetylglucosaminyltransferase-like protein MGAT4D isoform X2

    8. XM_054349001.1 → XP_054204976.1  alpha-1,3-mannosyl-glycoprotein 4-beta-N-acetylglucosaminyltransferase-like protein MGAT4D isoform X2

    9. XM_054349011.1 → XP_054204986.1  alpha-1,3-mannosyl-glycoprotein 4-beta-N-acetylglucosaminyltransferase-like protein MGAT4D isoform X10

    10. XM_054349006.1 → XP_054204981.1  alpha-1,3-mannosyl-glycoprotein 4-beta-N-acetylglucosaminyltransferase-like protein MGAT4D isoform X5

    11. XM_054349013.1 → XP_054204988.1  alpha-1,3-mannosyl-glycoprotein 4-beta-N-acetylglucosaminyltransferase-like protein MGAT4D isoform X10

    12. XM_054349008.1 → XP_054204983.1  alpha-1,3-mannosyl-glycoprotein 4-beta-N-acetylglucosaminyltransferase-like protein MGAT4D isoform X7

    13. XM_054349009.1 → XP_054204984.1  alpha-1,3-mannosyl-glycoprotein 4-beta-N-acetylglucosaminyltransferase-like protein MGAT4D isoform X8

    14. XM_054349010.1 → XP_054204985.1  alpha-1,3-mannosyl-glycoprotein 4-beta-N-acetylglucosaminyltransferase-like protein MGAT4D isoform X9

    RNA

    1. XR_008486929.1 RNA Sequence

    2. XR_008486930.1 RNA Sequence

    Suppressed Reference Sequence(s)

    The following Reference Sequences have been suppressed. Explain

    1. NM_001034840.1: Suppressed sequence

      Description
      NM_001034840.1: This RefSeq was permanently suppressed because it is a partial sequence.
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    A6NG13.3 GenPept UniProtKB/Swiss-Prot:A6NG13

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